Publications:

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics

Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG

Publication Date: 2020-08

Variant appearance in text: GLA: Ile242Phe

PubMed Link: 32161151

Variant Present in the following documents:

• jmedgenet-2019-106467supp001.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: I242F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Variable phenotypic presentations of renal involvement in Fabry disease: a case series.

F1000Research

McCloskey, Sarah S; Brennan, Paul P; Sayer, John A JA

Publication Date: 2018

Variant appearance in text: GLA: 724A>T; Ile242Phe; rs397515873

PubMed Link: 29770213

Variant Present in the following documents:

• Main text
• f1000research-7-14890.pdf

View BVdb publication page